Genomics - Articles and news items

Study finds genetic basis for drug response in childhood absence epilepsy

Industry news / 13 April 2017 / Niamh Marriott, Junior Editor

A new childhood absence epilepsy study has identified genes that show individual reactions and could be used as a precision medicine approach…

Democratising clinical genomics while protecting data privacy 

Blog, Z Homepage promo / 1 February 2017 / Jurgi Camblong (CEO, Sophia Genetics)

Sophia Genetics co-founder and CEO, Jurgi Camblong, tackles issues of privacy and security for healthcare patient data…

Sophia Genetics’ data-driven technology gives actionable cancer information

Industry news / 10 October 2016 / Niamh Louise Marriott, Digital Content Producer

The new data-driven tech, OncoPortal, improves the diagnosis and treatment of solid tumours and haematological malignancies for patients around the world…

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DiscoverX and the SGC partner to make an annotated collection of >600 kinase inhibitors freely available

Supplier news / 4 March 2016 / DiscoverX

DiscoverX Corporation announced its partnership with the Structural Genomics Consortium (SGC)…

Broad Institute Genomic Services offers genomic insight into Ninlaro

Industry news / 25 January 2016 / Victoria White

Ninlaro (ixazomib) was recently approved by the FDA, indicated in combination with lenalidomide and dexamethasone for the treatment of patients with multiple myeloma…

New Lymphocyte Genome Sensitivity assay can potentially identify patients with any cancer

New Lymphocyte Genome Sensitivity assay can potentially identify patients with any cancer

Supplier news / 17 September 2015 / Andor

Andor Komet software characterises ‘Comets’ to detect Cancer…

Figure 2: The number of targets addressed for a specific cancer patient. There are 90 currently approved anti-neoplastic drugs, including 9 biologicals2; a patient often receives a chemotherapy regimen comprising three to six chemotherapy agents and a targeted monoclonal antibody (left). A tumour has ~50 immunogenic antigens from protein-changing cancer mutations18,19 and 20-150 gene isoforms with tumour-enhanced expression that, assuming at least one immunogenic epitope per gene, suggests ~50 addressable expression and differentiation antigens (right)

The T cell druggable genome

Genomics, Issue 4 2012 / 3 September 2012 / Jan Diekmann, Martin Löwer, John C. Castle, Sebastian Kreiter, Özlem Türeci and Ugur Sahin, Translational Oncology, Johannes Gutenberg Medical University of Mainz

The ‘druggable genome’ has been defined as those genes that can be pharmaceutically modulated; when intersected with disease-associated genes, the resultant set represents therapeutic targets for developing drugs to prevent and treat diseases. Historically, druggable therapeutic target genes have been defined by two features; (i) their significant contribution to the disease phenotype in a sufficient number of affected individuals and (ii) modulation of their activity by binding of a drug molecule.

The emerging era of cancer immunotherapy is dramatically changing the target landscape towards molecules that can be recognised by antibodies and T cells, thereby inducing redirection of immune effector mechanisms against target-bearing tumour cells. Despite the fact that the target space for immunotherapy is broad, few genes have been clinically evaluated as cancer immunotherapy targets. We have recently shown that patient and tumourspecific somatic mutations identified by next-generation sequencing of cancer genomes can be systematically targeted by cancer vaccines. In combination with a versatile immunotherapy platform for on-demand production of tailored vaccines, this, for the first time, opens the door to an entirely new source of druggable therapeutic targets – the abundant space of individual cancer mutations.

Genomics / Sequencing supplement 2011

Genomics, Issue 4 2011, Supplements / 31 August 2011 / Bhupinder Bhullar (Novartis Pharma AG), Wei Chen (Max Delbrück Center for Mollecular Medicine Berlin-Buch), Stephen A. Haney (Biological Profiling, Applied Quantitative Genotherapeutics, Pfizer Biotechnologies Unit)

NGS powers up drug discovery and healthcare.
Impact of novel sequencing technology on transcriptome analysis.
Making sense of nonesense (and missense): Bringing the results of recent genetic studies into the drug discovery laboratory.

Researchers identify genes causing antimalarial drug resistance

Industry news, News / 21 April 2011 / Harvard School of Public Health (HSPH)

Researchers have identified several genes that may be implicated in the malaria parasite’s ability to rapidly evade drug treatments…

Figure 1 Schematic illustration of arrayed or pooled RNAi screens in cells. Left panel. Pooled-viral vectors encoding libraries of shRNAs targeting multiple genes can be used to transduce a target cell population in a single tissue culture dish. After selection for the desired phenotype, cells are analysed for the identification of genes whose inhibition by RNAi knockdown cause the specific phenotype as described in Table 1. The relative abundance of each shRNA or a random 60-mer barcode expressed from the same vector as the specific shRNA can be identified and quantified by labelling the PCR product with fluorescent dyes (e.g., Cy5 or Cy3). The PCR products are then hybridised to custom designed cDNA microarrays containing barcode or shRNA complementary oligonucleotides. The relative abundance of barcodes obtained from the cells that were exposed to selective pressure are compared to that detected in control cells that have been exposed to the same shRNA library, but not to the selective pressure (for example, drug treatment or genetic mutations). Right panel. Arrayed RNAi screen libraries consist of individual siRNA or shRNA reagents that target different genes and that are placed in each well of a multi-well plate. RNAi reagent libraries can comprise synthetic siRNAs, plasmid-or virally-encoded shRNAs. Various assay readouts are used to determine the effect of RNAi on the phenotype as described in Table 1. Adapted10.

RNAi screens for the identification and validation of novel targets: Current status and challenges

Genomics, Issue 6 2010 / 16 December 2010 / Attila A. Seyhan, Translational Immunology, Inflammation and Immunology, Pfizer Pharmaceuticals

Recent advances in RNA interference (RNAi) technology and availability of RNAi libraries in various formats and genome coverage have impacted the direction and speed of drug target discovery and validation efforts. After the introduction of RNAi inducing reaagent libraries in various formats, systematic functional genome screens have been performed to query the functions of individual genes, pathways or an entire genome in many disease areas, including cancer, viral pathogenesis and others. As a consequence of these screens, novel mediators of cellular response to disease pathogenesis or treatment approaches have been identified leading to the discovery of novel drug targets, development of combinatorial treatment approaches and patient selection biomarkers.

Functional genomics as a tool for guiding personalised cancer treatment

Genomics, Issue 5 2010 / 29 October 2010 / Roderick Beijersbergen, Group Leader Molecular Carcinogenesis, the Netherlands Cancer Institute

Improved understanding of the molecular alterations in cancer cells has fuelled the development of more specific and directed cancer therapies. However, it has become clear that response rates can be low due to confounding genetic alterations that render these highly specific therapies ineffective. As a result, the costs of cancer treatment will increase enormously unless we are able to identify those patients that will benefit most from these directed therapies. In addition, it will be necessary to identify additional targets in these complex molecular networks that can be further exploited to increase overall response rates in the highly heterogenic populations of human tumours. In recent years, great expectations have been put forward for the use of functional genomic screening technologies to reach these goals.

Figure 1 Advances in the development of sequencing technologies have resulted in an increase in data output with a dramatic decrease in cost. This graph compares calculated sequencing costs for one complete haploid human genome sequence (23 chromosomes, three billion bases) * estimated from literature ** marketing figures

The Sequencing Revolution: enabling personal genomics and personalised medicine

Genomics, Issue 5 2010 / 29 October 2010 / Bhupinder Bhullar, Novartis Institute for Biomedical Research

It has been 10 years since the completion of the first draft of the human genome. Today, we are in the midst of a full assault on the human genetic code, racing to uncover the genetic mechanisms that affect disease, aging, happiness, violence … and just about every imaginable human variation. Advances in DNA sequencing technology have enabled individuals to have their own genomes sequenced rapidly, cheaply and in astonishing detail. The sequencing revolution is also changing the way the pharmaceutical industry develops, tests and targets new medicines.

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